rs72820383

This variant is located in the PRPF8 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

scavenger receptor class F member 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.30

p 6.0e-55

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

Retinitis pigmentosa 13; not provided

View on ClinVar →

About PRPF8

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

View all PRPF8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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